POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Central hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.130 GeneticVariation disease BEFREE Mutations within POU1F1 are associated with GH, TSH and PRL deficiencies, with the TSH deficiency being highly variable. 18174732 2007
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.130 GeneticVariation disease BEFREE The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with cerebellar hypoplasia); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (IGHD). 12914740 2003
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.130 GeneticVariation disease BEFREE However, as the involvement of PIT1 mutation is rare in Russia, the other negative cases need to be analyzed for another candidate gene responsible for combined GH/Pr/TSH deficiency. 9632165 1998
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.130 Biomarker disease HPO